Genetic predisposition to leukemia: a new multidisciplinary clinic made in Humanitas is born

«In modern medicine we face great opportunities for patients with blood diseases, thanks to the result of genomic research and important technological innovation, such as advances in the knowledge of biological mechanisms of hereditary predisposition». Matteo Della Porta, professor of Hematology at Humanitas University, comments on an important innovation introduced by Humanitas for the diagnosis of genetic predisposition to leukemia, which also represents a challenge and an opportunity for students who are preparing to become doctors. A multidisciplinary clinic, the first Italian center for the study of genetic predisposition to acute and chronic leukemia. It is a place where geneticists, hematologists, molecular biologists and dermatologists work side by side to treat patients and assess the risk of their relatives.

Scientists will use the latest knowledge emerging in the field of DNA studies. There are, in fact, many scientific evidences, recorded in the last 5 years, that have shown how hereditary gene mutations, present from birth, can be found in up to 10-15% of cases in patients with leukemia. This mainly concerns young people under the age of 50.

The new frontier of disease prevention also represents a learning opportunity for today’s students, who will be tomorrow’s healthcare professionals. «The challenge for doctors of the new generation is to be able to deal with these new tools to support diagnosis and treatment, with solid technological and clinical skills», says Della Porta. «Today the task of University is to promote a broad spectrum training, up-to-date with the technological knowledge that is required today to practice innovative medicine».

The study starts with a meeting with the patient, who is informed about the test and about the possible implications of the results with respect to therapy for leukemia. The examination is then performed, in a totally non-invasive way, on a sample of venous blood and simultaneously on skin cells. Thanks to next-generation DNA sequencing techniques (Next Generation Sequencing, NGS), mutations in 106 genes known to be involved in hereditary predisposition to leukemia are then studied. After 8 weeks, the patient is summoned for a second interview, to discuss the test results and implications with the specialists, hematologist and geneticist. Looking ahead, this is a crucial study for the development of prevention strategies and programs.


Humanitas is a highly specialized Hospital, Research and Teaching Center. Built around centers for the prevention and treatment of cancer, cardiovascular, neurological and orthopedic disease – together with an Ophthalmic Center and a Fertility Center – Humanitas also operates a highly specialised Emergency Department.